The Association between Parameters of Erythrocytes Morphology and Thrombophilia-related Mutations

Abstract

Background: Alterations in erythrocyte morphology parameters have been identified and associated with hematological disorders and other chronic and cardiovascular diseases. Erythrocytes are abundant in thrombus content. Their hemoglobin density and differences in the ratio of macrocytic and microcytic cells may be associated with hypercoagulopathy in those with a history of thrombosis.

Objective: This cross-sectional study aimed to investigate the relationship between hemogram parameters and thrombophilia genetic parameters.

Methods: A total of 55 patients whose thrombophilia panel was reviewed due to the diagnosis of thrombosis were included in the study. % MIC, % MAC, % HPO, % HPR and all hemogram parameters were measured using Abbott Alinity HQ. Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, Factor V Leiden G169A and PAI-1 4G/5G mutations were studied using Real Time- PCR.

Results: The MTHFR C677T mutation was detected in 58.2% of the patients. The Factor V Leiden mutation was detected in 5.5% of the patients. The MTHFR A1298C mutation was detected in 58.2%, The PAI mutation was detected in 74.5%, and the Factor 13 mutation was detected in 29% of the patients. Prothrombin G20210A mutation was not detected in any of the patients. Red blood cell (RBC) and hematocrit (Hct) values were higher in Factor 13 mutant group; the Hgb and Htc values were higher in the MTHFR C677T mutant group. The plateletcrit (PCT) and platelet (PLT) values were lower in MTHFR C677T mutant group.

Conclusion: The MTHFR C677T and Factor 13 mutations may be associated with high Hct and Hgb, RBC, Hgb, and Htc values, respectively and coagulation tendency in patients with a history of thrombosis.

Keywords: MTHFR C677T; arterial thrombosis; erythrocyte morphology; factor 13; mutation; thrombophilia; venous thromboembolism.